Developing a core outcome set for intervention studies in post stroke cognitive impairment (COS-PSCI): a protocol. [PDF]
BMJ OpenPurcell S +5 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Towards a feature-based regulatory benchmark for user-centred SaMD design in cancer care. [PDF]
BMJ Health Care InformKheirinejad S +4 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven +16 more
wiley +1 more source
After diagnosis, place matters: the role of neighborhood built environment in aging in place among older adults with cognitive impairment. [PDF]
J Gerontol B Psychol Sci Soc SciWang W, Lee C, Chen X, Zhu X, Ory MG.
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Usability and feasibility of the longitudinal implementation strategy tracking system: a think-aloud study with implementation researchers. [PDF]
Front Health ServMerle JL, Smith JD.
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
A tripartite multifactorial analysis of abstract anaphoric choice between this and this+NP in Chinese L2 English argumentative writing: Extending the usage-based approach to discourse alternation. [PDF]
PLoS OneXu J, Yue M, Yang Y.
europepmc +1 more source